SEZ6
Summary: The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:616666 Ensembl IDEnsembl:ENSG00000063015 HGNC IDHGNC:HGNC:15955 PHARMGKB IDPA38065 Map Location17q11.2 | |||||
GO terms in SEZ6
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0008344 | adult locomotory behavior |
| BP | IEA | GO:0021680 | cerebellar Purkinje cell layer development |
| BP | IEA | GO:0060074 | synapse maturation |
| BP | IEA | GO:0060079 | excitatory postsynaptic potential |
| BP | IEA | GO:0090036 | regulation of protein kinase C signaling |
| BP | IEA | GO:1900006 | positive regulation of dendrite development |
Gene expression in normal tissue: SEZ6
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SEZ6
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SEZ6
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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